mutation

Breast cancer treatment to be determined by gene test

...n two genes, BRCA1 and BRCA2. It is estimated that mutation carriers have a 55% to 85% risk of breast cancer risk by age 70, while carriers with breast cancer have about a 35% 10-year risk of developing cancer in the opposite breast. To determine the psychological impact of BRACA test results on women with b...

Unravelling the secrets of ‘Huntingtin’ Protein - towards the treatment of ‘Huntingtons’ Disase

...g the brain tissue. Researchers have believed the mutation somehow caused the protein to be toxic. But until now, they have not been able to identify the function of the "normal" huntingtin protein present in people without the disease. Researchers have uncovered the function of a protein that plays an imp...

Unravelling the secrets of ‘Huntingtin’ Protein - towards the treatment of Huntingtins’ Disese

...g the brain tissue. Researchers have believed the mutation somehow caused the protein to be toxic. But until now, they have not been able to identify the function of the "normal" huntingtin protein present in people without the disease. Researchers have uncovered the function of a protein that plays an impo...

Lose stomach for Life....Preventive removal of stomach saves the risk of cancer

...s a story about five gentlemen with a rare genetic mutation that confers a very high risk of stomach cancer. ...are form of hereditary gastric cancer caused by a mutation of the E-cadherin gene. These people had a very bad family history with deaths related to stomach c...

Too much coffee is too bad

...he spine, and that women who were homozygous for a mutation in the vitamin D receptor (VDR) gene were at greater risk for caffeine-related bone loss.// Women in the high cafeeine category with the tt genotype lost bone density over 3 years, compared with no change in bone desity in women in the low caffeine ...

Discovery of bone gene

According to researchers- a gene mutation causing high bone density, which could open the way to new osteoporosis treatments. Bone is a dynamic material, which is being formed and destroyed all the time. When the bone loss side of the equation predominates, you are at risk of osteoporosis.//...

Inherited gene important in ovarian cancer

...0 per cent of cases of ovarian cancer arise from a mutation in a gene called BRCA1.// In these cases, the woman usually has a strong family history of the disease. We know that BRCA1 prevents tumours from developing, although it's not yet known in detail how it works. Now doctors at the University of Iowa h...

Mutation connected to Osteoporosis

... the patients revealed 13 of the 18 shared a GNAS1 mutation -- guanine nucleotide binding protein alpha stimul... way cells function. In the case of POH, the GNAS1 mutation results in a mistaken signal to non-skeletal cells, which results in the creation of bone by the mis...

Scientists found ancient Human Germ Killer

...e for RTD-1. However, inside the human gene was a mutation that prevented it from working, as if an extra, me... one that would have occurred naturally before the mutation appeared. Next they added it to human cell cultures in a laboratory dish and exposed the cells to H...

Blood test may aid foretell Alzheimer's

...St. Louis team examined 40 mice carrying a genetic mutation to develop buildup up amyloid plaque. Two types of this amyloid protein were measured in the mice's blood. Animals then were injected with an antibody -- an immune system substance that fights infection -- called m266 -- which draws amyloid protein f...

Stem Cells Have Few Mutations

...ody has assumed that the embryonic stem cell had a mutation rate, we show that it is actually lower than what ...udy, said that the most common embryonic stem cell mutation found in the mice was the deletion of a chromosome that is replaced by a second copy of the remainin...

Mutating viruses helps produce antibodies

...plications such as artificial antibodies from this mutation process by working with chemist Gregory Weiss of t... The researchers also suspect this highly targeted mutation process may exist in more than just viruses. "I would not be surprised if this turns up in genomes o...

New technique for heart enlargement

...e imaging test may identify patients with the gene mutation that causes a potentially fatal heart condition. R...chers found patients with the most common HCM gene mutation had lower velocities during relaxation and higher contraction levels, particularly in the left ventr...

A new genetic label for stroke

...e was found to be a stronger risk factor. When the mutation was combined with the other risk factors, the risk skyrocketed....

Enzyme may aid hold back disease

...l chemistry that goes on in the human body. When a mutation occurs, the genes stop doing their jobs powerfully. Researchers say one in three genetic changes or mutations that causes disease in people can be attributed to methyl-groups. Methyl-groups work to shut down genes, but in doing so significantly incr...

Jumping genes eliminate sections of DNA

...other cells of the body, he noted, which means any mutation effect they have is already present in our bodies at birth. The L1 elements use a process called reverse transcription to move about and insert themselves into DNA sequences. The researchers found four of 37 jumping events resulted in deletions of g...

Genetic tests for cancer

...family history, then it is pointless to test for a mutation and to interpret the result. These issues are important, given that genetic testing can - in theory - be done 'over the counter'. That is, you could buy a kit and test for a cancer gene. But without your family history and counselling you would not...

Osteoporosis and kidney stones gene marker identified

...rchers at the University of Texas has found a gene mutation in people with a family history of kidney stones, which makes them absorb too much calcium. They reported on six gene mutations which increase the risk of kidney stones, because they cause too much calcium absorption - a condition known as absorptive...

Genetic mutation to the 'fountain of youth' discovered

...ists from Caltech have identified a common genetic mutation called C150T transition in people over 100 years o...to discovering a "fountain of youth". This genetic mutation was found in the mitochondrial DNA of white blood cells, in a study of a group of 52 Italian centena...

Gene defect linked to dilated cardiomyopathy(DCM)

... that some people with inherited DCM show a subtle mutation in their phospholamban gene. Patients with DCM may suffer with tiredness, and shortness of breath whilst exercising or even whilst resting. They may have heart palpitations and notice their ankles becoming swollen. Scientists used tests on mice to d...

Gene linked to 'Missing Eye' condition in newborns

...ies born with this condition have their roots in a mutation of a gene called SOX2. The geneticists who tested the SOX2 gene in children born with the condition and found mutations in many of them, reassured parents that these genetic mistakes were not passed down from them. Instead, they are believed to have ...

Brain diseases an outcome of cannibalism

...sted that there is a certain genetic variation and mutation which is more prevalent in women over 50 than youn...chers. Ample evidence suggests that the protective mutation through generations had protected them from disease. The mutation protects against CJD too. Mutation...

Gene Mutation Causes Ovarian Failure

Researchers have discovered a gene mutation that may cause premature ovarian failure, or early menopause. The findings may be useful for further study into, what researchers say, is a poorly understood condition. Premature ovarian failure is a form of infertility that affects about 250,000 wom...

Gynecological Surgeries Reduce Cancer Risk

...archers report women who were carriers of the gene mutation and non-carriers who had their ovaries surgically ...tion. Study authors conclude both BRCA1 and BRCA2 mutation carriers and non-carriers have a reduced risk of ovarian or peritoneal cancer after gynecologic surg...

Mutant sperm beat out healthy brethren in study

...dren, the younger men were more likely to have the mutation than the older men. "Men over age 52 are six time...ar-old to have a child with Apert syndrome, so the mutation rate alone can't account for the condition's link to paternal age" said Researchers. Literally hund...

Liquid Drano for Your Arteries

...searchers later discovered that these people had a mutation in their HDL gene that caused good cholesterol to break down quickly even though their bodies made plenty of it. Researchers then turned this same strain of HDL into an experimental drug and gave it to heart attack patients. Results of the study sho...

Cleft Lip And Cleft Palate Can Now Be Predicted Before Birth

...archers say they have also identified another gene mutation that accounts for 2 percent of isolated cleft cases. Therefore, researchers say they can now screen for about 15 percent of cases. Researchers say their study shows that they have reached a point where it’s possible to take blood samples from parent...

Another Cause of Thyroid Cancer Discovered

... cells. A recent study has uncovered a novel gene mutation , researchers say part of the AKAP9 gene and the BRAF gene are involved. The fusion of these genes results in BRAF signaling normal cells to transform into malignant cells. This is a new discovery of cause for patients with thyroid tumors. Researche...

Increased Risk For Venous Thrombosis In Cancer Patients

...risk). Cancer patients who also carry the V Leiden mutation had a 12-fold increased risk vs. individuals witho...e indirectly calculated for the prothrombin 20210A mutation in patients with cancer. Thus researchers say for patients with cancer who have an increased risk t...

Single gene analysis for diagnosis of a range of blood disorders

A single mutation that causes a number of blood disorders ahs been f...lop a diagnostic test, which could pinpoint a gene mutation found in most patients with myeloproliferative blood disorders. These disorders are characterized by...

Gene is related to premature ageing disease

...geria syndrome. The disease is caused by a point mutation in the gene called LMNA. This gene is one of the major genes that lead to the physiology of mammals and reside in mammalian cell nucleus. Fibroblasts from the individual with the disease have severe abnormalities in the nuclear envelope structure. ...

Early rising from sleep can run in families

...ene PER2. The pattern is exhibited when there is a mutation in the phosphorylation site in the casein kinase I (CKI) domain of the gene. The behavior pattern is also known as first human mendelian circadian rhythm variant. The circadian clock is a cellular mechanism that sets various rhythmic activities ins...

Sleep cycles may be related to metabolism

US scientists have found out that mice with a mutation of a gene that controls the circadian clock tend to eat more and gain weight.// The circadian clock is a cellular mechanism that sets various rhythmic activities inside the organisms. It is this clock that sets the rhythm of sleep and wake patterns...

Human immunity system can battle HIV.

...to cause sequence specific RNA attack through cell mutation on the one of the HIV proteins called Tat. To protect itself HIV virus may need a virally encoded protein. Scientists feel that the protein Tat may be guarding a vulnerable genetic sequence of HIV that the virus cannot change even under attack. Rese...

Arsenic poisoning reactions can be traced to genes

...ody. The research also showed that children with a mutation of the gene variety CYT19 react to arsenic in a different manner than the adults. The results of the research can be important as arsenic is often used as a drug to treat cancer. The researchers are hopeful that the new study will lead to new dosage...

Emergence Of New Gene Scanning Technology In Disease Research

... new tool// called meltMADGE can scan rare genetic mutation at a fraction of cost. It combines thermal ramp el...rough this technique one can identify rare genetic mutation in a population and identify gene level changes says professor Day. Although this research is at sti...

Gene mutation identified for inherited pain syndrome

Researchers have identified the single mutation of the gene involved in causing// the condition of...eported in their research findings that the single mutation of the gene for sodium channel Nav1.7 is responsible for people to suffer from the chronic condition...

Mutations in NOTCH1 cause an early developmental defect in the aortic valve

...ern Medical Center of Dallas// discovered that the mutation in a gene NOTCH1 is responsible for aortic valve d...on of the aortic valve may be a manifestation of a mutation in NOTCH1 or related genes," Dr. Garg said. More studies his to be carried out to find the mechanism...

Obesity in Children may be linked to the obesity gene.

Inherited mutation in gene ENPP1 may contribute to obesity and diabet... risk for obesity and discovered that a hereditary mutation in gene ENPP1 contributes to obesity in them and the early onset of type II diabetes. The scientist ...

Influenza Avian Flu strain has become more contagious and dangerous.

...earchers feel that there are concern regarding the mutation of the virus, if these virus undergoes mutation there are chances of the virus spreading from person to person causing a pandemic disease, which wil...

Knowledge Of Infertility Gets New Inputs

...n are lacking in this gene or not, or if a genetic mutation have altered the function of the gene or not. Researchers for the study feel that dealing with infertility often takes a toll on the emotional well being, as well on the financial well being as well. This is because most of the infertility treatment...

New Discovery May Help Treat Infertility

...ovide enough information to determine if a genetic mutation may be altering the function of the estrogen receptor beta. The results of this blood test, coupled with information from other medical tests and evaluations conducted by the physician, will help diagnose infertility and better determine treatment op...

Fragile X-Associated Tremor /Ataxia Syndrome Need Guidelines For Diagnostic Tests

...lzheimer's disease. The cause of the disorder is a mutation of the fragile X gene that causes mental retardation....

Exposure to tobacco smoke causes genetic damage in fetus

...ure result in similarly increased rates of genetic mutation that are basically indistinguishable, it said. "These kinds of mutations are likely to have lifelong repercussions for the exposed fetus, affecting survival, birth weight and susceptibility to disease, including cancer." This is a startlingly dif...

Inflammatory bowel disease linked to genetic abnormality

...ses by atleast 25% when a person happens to have a mutation on chromosome 16. The study was led by a group of researchers from France and USA. The complete data will appear in the May 31st issue of journal Nature. The gene in question is called Nod2. If this gene is damaged, researchers say,// ...

Identification of gene

...stigators from UCSD,found that mice with a genetic mutation in an enzyme called alpha-mannosidase II develop lupus-type symptoms. This enzyme helps to form cell-surface carbohydrate structures called N-glycans, which enable the immune system to distinguish self from non-self. In people with lupus and other a...

The anxiety gene

Researchers have found the genetic mutation that is to blame for most panic attacks and other ...ily members carried a genetic abnormality.The same mutation - dubbed DUP25 - was also present in most other unrelated people that they tested, but it was rare i...

Malarial gene ascertained

...ping the drugs from accruing within the cell. The mutation helps confer resistance to the drugs mefloquine, quinine, halofantrine, chloroquine, and artemisinin. If a drug can be developed to inhibit the Pgh1 protein, the old drugs would be more effective. However, Dr Donald says other genes also contribute t...

Gene in Melanomas

...eden found that genetically engineered mice with a mutation in the gene, known as Cdk4, were more likely to de... blood to other organs in the body. The specific mutation in the Cdk4 gene renders the Cdk4 protein insensitive to a family of regulatory molecules that norma...

Hope For Patients With Muscular Dystrophy

...ed muscles. Further tests revealed the child had a mutation in his myostatin gene that effectively kept his body from producing the myostatin protein, which is known to regulate muscle growth. So far the child, now age 4, has had no ill effects from the mutation, but doctors are watching him closely as he gro...

The Link between obesity and Breast Cancer

A recent study done shows that women with a mutation in the gene BRCA1, which predisposes them to breas... women from five different countries who all had a mutation in one of the breast cancer susceptibility genes BRCA1 and BRCA2. Around one in 200 women has a mu...

Genetic Cause For Farsightedness Discovered

... farsightedness. In the case of nanophthalmos, a mutation in MFRP completely wipes out the function of the p...he research team successfully mapped the MFRP gene mutation in humans and discovered that the protein was completely missing from nanophthalmos patients. In a n...

Bird Flu Risk In Europe, Middle East And Africa

... humans and can easily spread between people. This mutation can trigger a pandemic that could claim the lives of millions of people across the globe. The control efforts should ensure that no pandemic human infections occur due to bird flu. Wild water birds flying from Siberia, where the virus has recently ...

Genes responsible for cancer in women associated with increased cancer risk in men

...en in the inheritance of cancer as well. A genetic mutation linked with a greater risk of breast and ovarian c...l inheritance of breast cancer among women and the mutation in the BRCA2 gene is associated with increased risk in women who have a family history of breast and...

Genetic Eye Disorder Can Have Other Implications

...r and brain development. The syndrome involves a mutation to HOXA1, a gene that has been extensively studied... universally die. Until this study, no human HOXA1 mutation had ever been identified, and it was assumed that complete loss of HOXA1 function would be lethal. B...

Familial Breast cancer without gene mutation not found to cause ovarian cancer.

...cancer with out BRCA1 and BRCA2 breast cancer gene mutation do not have an increased risk of // developing ovarian cancer. The study was conducted in 200 families with a history of hereditary breast cancer and the reports submitted in the Journal of the National Cancer Institute. Breast cancer is the Second...

Gene linked to colorectal cancer identified

...Cancer Center, Houston have found a gene, which on mutation or damage leads to development of colorectal cancer. They have found that mutation or defect in this gene leads to // development of colorectal cancer. The researchers have found that...

Blood Transfusion May Not Be Required For Thalassaemia

... in many countries. ?-thalassaemia is caused by a mutation in the ?-globin gene. Patients with mutations in both of their ?-globin genes have thalassaemia major. This form of the disease causes severe transfusion-dependent anemia. However, in many Asian countries people can inherit one ?-thalassaemia gene fr...

Chronic Pain Syndrome May Be In The Genes

Researchers have found that gene mutation is associated with the neurological disorder calle... the first genetic disease found to be caused by a mutation in a gene of the septin family. According to the authors of the SEPT9 gene mutations study, SEPT9 h...

People seek reassurance in facemasks following threats of bird flu epidemic

...of U.N. health chief David Nabarro who said that a mutation of the virus affecting Asia could trigger new, widespread outbreaks. In a latest news release in Taiwan, the Center for Disease Control said that if visitors from Cambodia, Indonesia, Thailand and Vietnam show symptoms of bird flu, such as fever, c...